Illumina, the global leader in next-generation sequencing technology, has announced that their latest gene sequencing machine could finally make the $100 genome a reality.

The new machine is more efficient and cost effective, and will allow for sequencing on an unprecedented scale by making it possible to sequence more samples at greater depth and take on projects that would otherwise be too expensive.

This not only allows for deeper understanding and better treatments for complex disease but will also make it possible for more people than ever to benefit from precision medicine.

The previous system enabled the $1,000 genome and was first announced in 2010.

Misha Kapushesky, founder of Cambridge-based Genestack, speaking to Cambridge Business magazine, said of the increasingly available dataset: “As a proportion of genomics and sequencing the production costs are going down – it’s getting cheaper – and data management is going up. The progression of this technology goes in leaps and bounds. The last leap was six or seven years ago which was NGS – next-generation sequencing. That allowed David Cameron to announce the 100,000 Genome Project.” This project meant 100,000 UK patients with cancer and rare diseases had their entire genome decoded, leading to targeted therapies which could make chemotherapy “a thing of the past”.

Misha Kapushesky, founder of Genestack (Image: Keith Jones)

The Human Genome Project, which started in 1990, meant that the first full human genome cost $1 billion to be sequenced and today, as Misha points out, “all across the world people are generating genetic data at tremendous scale”.

“Then, earlier this year, Illumina announced the $100 genome, so it’s becoming commoditised, but finding the right data and the right tools to work with this data is where the challenge is.”

NovaSeq is the most powerful sequencer Illumina has ever launched and will open new horizons for the discovery of rare genetic variants.